--- license: permission_granted topic_id: companion_breed_health_freiberger_horse_congenital_liver_fibrosis_horse category: companion-breed-health title: "Freiberger (Horse) — Congenital liver fibrosis (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-23 from local OMIA database dump." source_file: pdf-raw/breed-health/freiberger_horse_congenital_liver_fibrosis_3739.txt date_parsed: 2026-08-23 tokens_estimated: 454 verification: method: substring_match claims: 9 passed: 9 date: 2026-08-23 recovered: false path: companion-breed-health/companion_breed_health_freiberger_horse_congenital_liver_fibrosis_horse/01_companion_breed_health_freiberger_horse_congenital_liver_fibrosis_horse.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Freiberger (Horse) — Congenital liver fibrosis (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001938/9796/" retrieved: "2026-08-23" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."---
Freiberger (Horse) — Congenital liver fibrosis (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Freiberger (Horse)Disorder: Congenital liver fibrosisMode of inheritance: Autosomal recessiveSummary: Hepatic fibrosis with cystic bile duct dilatation was observed in two- to twelve-months-old Franches-Montagnes foals. Affected foals commonly show pronounced hepatic encephalopathy with neurological disorders and laboratory findings of hepatic insufficiency. Livers in affected foals become severely enlarged and firm with multiple thin walled cysts. Their weight may be up to four fold higher than normal. Histologically, livers from affected foals show a diffuse portoportal bridging fibrosis with cystic bile ducts, forming a branching network. Affected foals die or are euthanized due to liver insufficiency.Clin feat: Affected foals will develop a liver failure, which can result in various clinical findings. Typical findings include fever and neurological symptoms resulting from the decreasing detoxification performance of the failing liver. An ultrasound examination will reveal an enlarged liver with cyst formation and clinical pathology will reveal grossly elevated liver enzymes.Defect: yesPathology: The livers of affected foals are enlarged (up to 4-fold) and of a yellow-greyish color. Histologically, diffuse porto-portal bridging fibrosis with many small, irregularly formed and sometimes cystic bile ducts is seen.Prevalence: The carrier frequency of this recessive defect was estimated at 14% in 2011 (Leeb, unpublished data). Due to the systematic use of an indirect haplotype marker test in the breeding program, the frequency of the deleterious allele is decreasing and affected foals are hardly born any more (as of 2014).Gen test: The University of Bern offers an indirect marker test.
Associated gene(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: Entrez Gene ID 388956767 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: The 952 kb candidate region contains 10 annotated genes. Drögemüller et al. (2014) proposed the PKHD1 gene as plausible functional candidate gene as variants in this gene cause similar phenotypes in other species (human, mouse, rat). The PKHD1 gene encodes a protein, which had also been termed polyductin or fibrocystin (FCYT). In humans most PKHD1 mutations cause cyst formation in the kidney and l…
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 2014. Congenital hepatic fibrosis in the Franches-Montagnes horse is associated with the polycystic kidney and hepatic disease 1 (PKHD1) gene. PLoS One — PubMed:PMID25295861 | DOI:10.1371/journal.pone.0110125 — OMIA Phene_Article / Article
- 2000. Congenital hepatic fibrosis and cystic bile duct formation in Swiss Freiberger horses. Vet Pathol — PubMed:PMID11105960 | DOI:10.1354/vp.37-6-669 — OMIA Phene_Article / Article
- 2003. Intrahepatic bile duct cysts (Caroli's disease) with liver fibrosis in foals. A synopsis of signs and diagnosis of seven cases. (in German). Tierärztl Prax — OMIA Phene_Article / Article
- 2018. Congenital hepatic fibrosis in a purebred Spanish horse foal: Pathology and genetic studies on PKHD1 gene mutations. Vet Pathol — PubMed:PMID29402207 | DOI:10.1177/0300985817754122 — OMIA Phene_Article / Article
- 2024. Predicted genetic burden and frequency of phenotype-associated variants in the horse. Sci Rep — PubMed:PMID38600096 | DOI:10.1038/s41598-024-57872-8 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:263200 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:606702 (type: gene) — OMIA Group_OMIM (via OMIA_ID)